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  • 1-10 ل  53 نتائج ل ""Mitochondrial Diseases""

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Publisher : oxford university press فلترة بواسطة : موضوع
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Academic Journal

BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.

  • Authors : Zhong H; Department of Biochemistry and Molecular Biology. University of Miami Miller School of Medicine, 1600 NW 10thAve. Miami, FL 33136, USA.; Janer A

Subjects: Iron-Sulfur Proteins*/Iron-Sulfur Proteins*/Iron-Sulfur Proteins*/chemistry ; Mitochondrial Ribosomes*/Mitochondrial Ribosomes*/Mitochondrial Ribosomes*/metabolism ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/metabolismMultiple Mitochondrial Dysfunctions Syndrome

  • Source: Nucleic acids research [Nucleic Acids Res] 2023 Nov 27; Vol. 51 (21), pp. 11797-11812.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

Evaluation of endpoints for the study and diagnosis of mitochondrial toxicity and disease: a narrative review.

  • Authors : Gharti P; Swansea University Medical School, Swansea University, Swansea, SA2 8PP, UK.; Fletcher JF

Subjects: DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics ; DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/metabolism ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/diagnosis

  • Source: Mutagenesis [Mutagenesis] 2023 Jun 20; Vol. 38 (3), pp. 132-138.Publisher: Oxford University Press Country of Publication: England NLM ID: 8707812 Publication Model: Print Cited Medium:

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Academic Journal

Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation.

  • Authors : Ueda S; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.; Yagi M

Subjects: MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/genetics ; MELAS Syndrome*/MELAS Syndrome*/MELAS Syndrome*/metabolism ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics

  • Source: Nucleic acids research [Nucleic Acids Res] 2023 Aug 11; Vol. 51 (14), pp. 7480-7495.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.

  • Authors : Wojtaszek JL; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.; Hoff KE

Subjects: DNA Polymerase gamma*/DNA Polymerase gamma*/DNA Polymerase gamma*/genetics ; DNA Polymerase gamma*/DNA Polymerase gamma*/DNA Polymerase gamma*/metabolism ; DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics

  • Source: Nucleic acids research [Nucleic Acids Res] 2023 Oct 13; Vol. 51 (18), pp. 9716-9732.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.

  • Authors : Ratnaike TE; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.

Subjects: Databases, Factual*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*chemistry ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*genetics

  • Source: Nucleic acids research [Nucleic Acids Res] 2021 Sep 27; Vol. 49 (17), pp. 9686-9695.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

Posttranscriptional modifications in mitochondrial tRNA and its implication in mitochondrial translation and disease.

  • Authors : Kazuhito T; Department of Molecular Physiology, Faculty of Life Sciences, Kumamoto University, Honjo 1-1-1, Chuo-ku, Kumamoto-shi, Kumamoto 860-8556, Japan.; Wei FY

Subjects: RNA Processing, Post-Transcriptional*; Mitochondria/Mitochondria/Mitochondria/*genetics ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*pathology

  • Source: Journal of biochemistry [J Biochem] 2020 Nov 01; Vol. 168 (5), pp. 435-444.Publisher: Oxford University Press Country of Publication: England NLM ID: 0376600 Publication Model: Print Cited Medium:

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Academic Journal

Mechanisms of replication and repair in mitochondrial DNA deletion formation.

  • Authors : Fontana GA; Department of Health Sciences and Technology, ETH Zürich, Schmelzbergstrasse 9, 8092 Zürich, Switzerland.; Gahlon HL

Subjects: DNA Repair* ; DNA Replication*; DNA, Mitochondrial/DNA, Mitochondrial/DNA, Mitochondrial/*biosynthesis

  • Source: Nucleic acids research [Nucleic Acids Res] 2020 Nov 18; Vol. 48 (20), pp. 11244-11258.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

HmtVar: a new resource for human mitochondrial variations and pathogenicity data.

  • Authors : Preste R; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari 70126, Italy.; Vitale O

Subjects: Databases, Genetic* ; Genetic Variation*; Computational Biology/Computational Biology/Computational Biology/*methods

  • Source: Nucleic acids research [Nucleic Acids Res] 2019 Jan 08; Vol. 47 (D1), pp. D1202-D1210.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases.

  • Authors : Smith AC; MRC Mitochondrial Biology Unit, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.; Robinson AJ

Subjects: Databases, Factual*; Computational Biology/Computational Biology/Computational Biology/*methods ; Mitochondria/Mitochondria/Mitochondria/*metabolism

  • Source: Nucleic acids research [Nucleic Acids Res] 2019 Jan 08; Vol. 47 (D1), pp. D1225-D1228.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium:

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Academic Journal

Mexico and mitochondrial replacement techniques: what a mess.

  • Authors : Palacios-González C; Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK.

Subjects: Genetic Engineering/Genetic Engineering/Genetic Engineering/*ethics ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*therapy ; Mitochondrial Replacement Therapy/Mitochondrial Replacement Therapy/Mitochondrial Replacement Therapy/*ethics

  • Source: British medical bulletin [Br Med Bull] 2018 Dec 01; Vol. 128 (1), pp. 97-107.Publisher: Oxford University Press Country of Publication: England NLM ID: 0376542 Publication Model: Print Cited Medium:

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  • 1-10 ل  53 نتائج ل ""Mitochondrial Diseases""